ABCB6 p.Tyr424His
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PMID: 25288164
[PubMed]
Lu C et al: "Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria."
No.
Sentence
Comment
34
In family 2, an additional novel heterozygous missense mutation c.1270T > C (p.Y424H) in exon 6 of ABCB6 was found in proband and his affected father (Fig. 2b and c).
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ABCB6 p.Tyr424His 25288164:34:79
status: NEW37 Additionally, the two missense mutations found in our DUH families have PolyPhen2 scores of 0.728 (p.S322R, possibly damaging) and 1.000 (p.Y424H, probably damaging), respectively.
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ABCB6 p.Tyr424His 25288164:37:140
status: NEW61 (c) Sequencing chromatogram showing the heterozygous missense mutation c.1270T > C (p.Y424H) in the proband.
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ABCB6 p.Tyr424His 25288164:61:86
status: NEW